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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-32224496-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=32224496&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 32224496,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000402280.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.3052G>A",
"hgvs_p": "p.Ala1018Thr",
"transcript": "NM_001199138.2",
"protein_id": "NP_001186067.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1024,
"cds_start": 3052,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 3319,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": "ENST00000402280.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.3052G>A",
"hgvs_p": "p.Ala1018Thr",
"transcript": "ENST00000402280.6",
"protein_id": "ENSP00000385428.1",
"transcript_support_level": 1,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1024,
"cds_start": 3052,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 3319,
"cdna_end": null,
"cdna_length": 3362,
"mane_select": "NM_001199138.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.3052G>A",
"hgvs_p": "p.Ala1018Thr",
"transcript": "ENST00000360906.9",
"protein_id": "ENSP00000354159.5",
"transcript_support_level": 1,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1024,
"cds_start": 3052,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 3316,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Ala353Thr",
"transcript": "ENST00000342905.10",
"protein_id": "ENSP00000339666.6",
"transcript_support_level": 1,
"aa_start": 353,
"aa_end": null,
"aa_length": 359,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 1362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.3052G>A",
"hgvs_p": "p.Ala1018Thr",
"transcript": "NM_001199139.1",
"protein_id": "NP_001186068.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1024,
"cds_start": 3052,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 3196,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.3052G>A",
"hgvs_p": "p.Ala1018Thr",
"transcript": "NM_021209.4",
"protein_id": "NP_067032.3",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1024,
"cds_start": 3052,
"cds_end": null,
"cds_length": 3075,
"cdna_start": 3327,
"cdna_end": null,
"cdna_length": 3374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Ala353Thr",
"transcript": "NM_001302504.1",
"protein_id": "NP_001289433.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 359,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "c.745G>A",
"hgvs_p": "p.Ala249Thr",
"transcript": "ENST00000652197.2",
"protein_id": "ENSP00000498301.2",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 255,
"cds_start": 745,
"cds_end": null,
"cds_length": 768,
"cdna_start": 1103,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "n.*758G>A",
"hgvs_p": null,
"transcript": "ENST00000404025.3",
"protein_id": "ENSP00000385090.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"hgvs_c": "n.*758G>A",
"hgvs_p": null,
"transcript": "ENST00000404025.3",
"protein_id": "ENSP00000385090.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.*3783C>T",
"hgvs_p": null,
"transcript": "NM_017964.5",
"protein_id": "NP_060434.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": -4,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5089,
"mane_select": "ENST00000282587.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.*3783C>T",
"hgvs_p": null,
"transcript": "ENST00000282587.9",
"protein_id": "ENSP00000282587.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": -4,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5089,
"mane_select": "NM_017964.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.*3783C>T",
"hgvs_p": null,
"transcript": "NM_001193513.3",
"protein_id": "NP_001180442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 501,
"cds_start": -4,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.*3783C>T",
"hgvs_p": null,
"transcript": "NM_001193514.3",
"protein_id": "NP_001180443.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.*3783C>T",
"hgvs_p": null,
"transcript": "NM_001193515.3",
"protein_id": "NP_001180444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 432,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 5002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.*3783C>T",
"hgvs_p": null,
"transcript": "NM_001330479.2",
"protein_id": "NP_001317408.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.*3783C>T",
"hgvs_p": null,
"transcript": "NM_001330476.2",
"protein_id": "NP_001317405.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 387,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4874,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.*3783C>T",
"hgvs_p": null,
"transcript": "NM_001330477.2",
"protein_id": "NP_001317406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 264,
"cds_start": -4,
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"cds_length": 795,
"cdna_start": null,
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"cdna_length": 5072,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.*3783C>T",
"hgvs_p": null,
"transcript": "NM_001330478.2",
"protein_id": "NP_001317407.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.*3783C>T",
"hgvs_p": null,
"transcript": "XM_011532959.4",
"protein_id": "XP_011531261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 478,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.*3783C>T",
"hgvs_p": null,
"transcript": "XM_047444944.1",
"protein_id": "XP_047300900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 452,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.*3783C>T",
"hgvs_p": null,
"transcript": "XM_011532962.4",
"protein_id": "XP_011531264.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 387,
"cds_start": -4,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC30A6",
"gene_hgnc_id": 19305,
"hgvs_c": "c.*3783C>T",
"hgvs_p": null,
"transcript": "XM_047444945.1",
"protein_id": "XP_047300901.1",
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},
{
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},
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}
],
"gene_symbol": "NLRC4",
"gene_hgnc_id": 16412,
"dbsnp": "rs1438338245",
"frequency_reference_population": 0.000009966612,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000963333,
"gnomad_genomes_af": 0.0000131517,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.054928869009017944,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.0705,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.563,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000402280.6",
"gene_symbol": "NLRC4",
"hgnc_id": 16412,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3052G>A",
"hgvs_p": "p.Ala1018Thr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000282587.9",
"gene_symbol": "SLC30A6",
"hgnc_id": 19305,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*3783C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Familial cold autoinflammatory syndrome 4,Inborn genetic diseases,Periodic fever-infantile enterocolitis-autoinflammatory syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Periodic fever-infantile enterocolitis-autoinflammatory syndrome;Familial cold autoinflammatory syndrome 4|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}